A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
Shackleton
S
S
Paediatric Molecular Genetics, Institute of Molecular Medicine, Oxford University, John Radcliffe Hospital, UK.
Harris
A
A
D000596:Amino Acids; D001483:Base Sequence; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics* / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D018807:Polymorphism, Single-Stranded Conformational
D000596:Amino Acids; C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA